Figure 1 - uploaded by Abdelrahim Abdrabou Sadek
Content may be subject to copyright.
Source publication
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH). The disease may present clinically with seizures, albinism (excessively fair hair and skin), and a “musty odor” to the baby’s sweat and urine. In the untreated classic case, menta...
Similar publications
Objective:
To study the prevalence of primary monosymptopomatic nocturnal enuresis (PMNE) in children aged 5-10 year and to find its association with sleep disordered breathing (SDB) by using a 22 item pediatric sleep related breathing disorder (SRBD) scale.
Methods:
This was a school based cross sectional epidemiological study from July 2015 to...
Toilet training is a process that all healthy children go through. It is one of the developmental milestones for which parents most often seek medical help. Despite this, many paediatricians feel unconfident managing children presenting with a toilet training problem. We address some common questions arising when assessing and managing such a child...
![Table 1 The HOSE system, from Holland et al. [15], with permission.](profile/Ahmed-Al-Adl/publication/260804610/figure/tbl1/AS:669677927800840@1536675068252/The-HOSE-system-from-Holland-et-al-15-with-permission_Q320.jpg)
Objectives
To objectively assess the functional and cosmetic outcomes of a modified tubularised incised-plate (TIP) urethroplasty (Snodgrass) technique, with particular attention to the uroflowmetry study and Hypospadias Objective Scoring Evaluation (HOSE) score.
Patients and methods
In a prospective case-series study, 43 consecutive patients with...
Electrical stimulation has been used as an alternative therapy for adult urinary syndromes and for children with constipation. We have evaluated the safety and efficacy of interferential (IF) electrical stimulation in children with nocturnal enuresis (NE).
This was a randomized clinical trial in which 54 children (23 girls, 31 boys) aged 6-14 years...
Background & aims:
Functional constipation (FC) is a common childhood problem often related to pelvic floor muscle dysfunction. We compared the effectiveness of pelvic physiotherapy (PPT) vs standard medical care (SMC) in children with FC.
Methods:
We performed a multicenter randomized controlled trial of 53 children (5-16 years old) with FC acc...
Citations
... Children suffering from the undesirable effect of illness require continuing support and nursing care, which is the mainstay of such patients [4]. Mothers play a pivotal role in the management of childhood PKU which needs a diverse range of complex skills and learning programs to deal with the children's disabilities and to maintain a special rehabilitation and diet program [5,6]. A self-learning package (SLP) is a document containing all educational objectives necessary for a learner to attain learning objectives independently of the teacher. ...
The objective of this study was to evaluate the effect of a self-learning package on mothers' knowledge and practices towards caring for their children with phenylketonuria. A pre/post quasi-experimental study was conducted, including 128 mothers of children diagnosed with phenylketonuria. A specifically designed and validated questionnaire was used to evaluate mothers' knowledge and reported practices toward their children before and after participating in the educational program. There was a highly positive association between knowledge and reported practice (.674 and .398). The self-learning package had a positive impact on mothers' knowledge and practices. Consequently, educational programs should be provided to all mothers of newly diagnosed cases to improve their children's adherence to the therapeutic regimen.
... Our study included children with PKU who were referred to the nutritional clinic of the National Nutrition Institute, and it was observed that there was a clear male predominance. This finding aligns with a previous study on newly diagnosed children with PKU, where 62.5% of the enrolled children were males (25). The presence of male predominance is not an uncommon finding and can be attributed to the higher prevalence of diseases in males and their shorter life expectancy compared to females, which is a universal demographic fact (26). ...
Background: Growing evidence suggests a higher occurrence of overweight and obesity in children diagnosed with phenylketonuria (PKU), yet the exact cause is still unknown. Objectives: The objective is to address the prevalence of overweight and obesity in children with PKU. Methods: In our cross-sectional study, we included 47 children with PKU who were receiving care at the nutritional clinic of the National Nutrition Institute. We conducted anthropometric assessments, which involved measuring weight, height, and BMI. Additionally, we performed biochemical evaluations, including measurements of fasting total cholesterol (TC), low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, very low-density lipoprotein (VLDL) cholesterol, and triglycerides. Moreover, we assessed fasting blood sugar levels. Results: In the study group, 57.44% were males, and 42.55% were females, with no significant gender difference observed. Malnourished children exhibited significantly higher phenylalanine (PHE) levels. Most participants (n = 26, 55.3%) were overweight or obese. A positive and significant correlation (rs = 0.6, P = 0.01) was found between PHE levels and fasting blood sugar levels. Conclusions: Children with PKU have a high prevalence of overweight and obesity, emphasizing the importance of obesity screening in this population.
... Children suffering from the undesirable effect of illness require continuing support and nursing care, which is the mainstay of such patients [4]. Mothers play a pivotal role in the management of childhood PKU which needs a diverse range of complex skills and learning programs to deal with the children's disabilities and to maintain a special rehabilitation and diet program [5,6]. A self-learning package (SLP) is a document containing all educational objectives necessary for a learner to attain learning objectives independently of the teacher. ...
The objective of this study was to evaluate the effect of a self-learning package on mothers' knowledge and practices towards caring for their children with phenylketonuria. A pre/post quasi-experimental study was conducted, including 128 mothers of children diagnosed with phenylketonuria. A specifically designed and validated questionnaire was used to evaluate mothers' knowledge and reported practices toward their children before and after participating in the educational program. There was a highly positive association between knowledge and reported practice (.674 and .398). The self-learning package had a positive impact on mothers' knowledge and practices. Consequently, educational programs should be provided to all mothers of newly diagnosed cases to improve their children's adherence to the therapeutic regimen.
... Recently, putaminal and thalamic atrophy have been demonstrated in individuals with early-treated PKU [4]. Brain atrophy has also been demonstrated in individuals with late-treated PKU, but systematic studies on this specific topic are scarce [47][48][49]. ...
Introduction
Phenylketonuria (PKU) is a rare, treatable inborn error of metabolism with frequent neurological and neuropsychiatric complications, especially in undiagnosed or insufficiently treated individuals. Given the wide range of clinical presentations and the importance of treatment implications, we here delineate the neurological and neuropsychiatric spectrum of a large cohort of previously unreported adults with late-treated PKU.
Methods
We consecutively evaluated late-treated PKU cases and pooled clinical and paraclinical data, including video-material, from three centers with expertise in complex movement disorders, inborn errors of metabolism and pediatrics.
Results
26 individuals were included (10 females, median age 52 years). Developmental delay and intellectual disability were omnipresent with severe impairment of expressive communication noted in 50% of cases. Movement disorders were prevalent (77%), including tremor (38%, mostly postural), stereotypies (38%), and tics (19%). One case had neurodegenerative levodopa-responsive parkinsonism. Mild ataxia was noted in 54% of cases and 31% had a history of seizures. Neuropsychiatric characteristics included obsessive-compulsive (35%) and self-injurious behaviors (31%), anxiety (27%), depression (19%) and features compatible with those observed in individuals with autism spectrum disorder (19%). Neuroimaging revealed mild white matter changes. Adherence to dietary treatment was inconsistent in the majority of cases, particularly throughout adolescence.
Conclusion
A history of movement disorders, particularly tremor, stereotypies and tics, in the presence of developmental delay, intellectual disability and neuropsychiatric features, such as obsessive-compulsive and self-injurious behaviors in adults should prompt the diagnostic consideration of PKU. Initiation and adherence to (dietary) treatment could ameliorate the severity of these symptoms.
... Patients with abnormal EEG /MRI finding were above 1year of age at diagnosis, except one (2 month old) who present with global developmental delay had abnormal EEG (generalized epileptic discharge). 22 where abnormal EEG records were found in larger number of cases,generalized epileptic discharge was documented in 42.8%,focal epileptic discharge 37.7% and 21.4% hypsarrythmia and probably this is again due to earlier diagnosis in our studied samples.MRI was obtained in tenof the previously described symptomatic patients. ...
... Four (40%) had normal MRI, three patient (30 %) showed brain atrophy, three (30 %) showed white matter disease WMD, and one have both changes. In the Egyptian study 22 the most frequent changes were brain atrophy documented in 82% followed by WMD changes 11.7% a normal MRI were found in 29.1% of patients. Anderson et.al.2010 31 reportedthat PKU may beassociated with diffuse white matter pathology in both treated and untreated patients. ...
... Those whom were diagnosed after sixmonth all were symptomatic. Microcephaly and mental retardation was found in totality of patient and this is similar with the Japanese study 2003 30 , global developmental delay was documented in five (45.6%) of our patients and it was documented in 66.7% Egyptian studied cases22 . Ten (43.5%) of the studied patientspresented with different type of seizure, the majority were from the older age group having late diagnosis this is similar to the Egyptian22 and Tunisian 25 studies (37.5% and 43% ) respectively.Hyperactivity present in(13 %) this rate is lower than the Egyptian and Tunisian studies 22,25 Probablybecause we had a large group of patient diagnosed early in life.pigmentary ...
... This provides a larger number of cases who were referred for evaluation of various neuropsychiatric and developmental problems, such as those previously described in our previously published pilot study. 42 In the current study, we had to clarify the current status of the disease burden and the neuropsychiatric outcome of PKU in our locality. The vast majority of our cases (97.3%) presented beyond the neonatal period and only 2.7% of the cases were discovered during neonatal screening. ...
... The mean age of presentation was 43.91±39.19 months, and this was comparable to our previous study (40.44±36 months), 42 but higher than that observed ...
Background:
Phenylketonuria (PKU) is considered to be a rare inborn error of metabolism but one of the commonest causes of mental retardation if untreated.
Objectives:
The present study was done to characterize the clinical patterns of PKU and analyze various neuropsychiatric outcomes in PKU children in Sohag Province, Egypt.
Patients and methods:
A prospective cohort study was conducted on 113 PKU patients, diagnosed during the period from 2012 to 2017, at the Pediatric Neurology Clinic of Sohag University Hospital, Upper Egypt. One hundred and ten cases were diagnosed based on clinical suspicion combined with laboratory confirmation by measuring their plasma phenylalanine levels using amino acid analyzer, while 3 cases were detected during neonatal screening. With the exception of the 3 cases detected during neonatal screening, all patients were clinically diagnosed and treated late. Psychometric evaluations of PKU patients were done using intelligence quotient (IQ, Stanford- Binet V), Childhood Autism Rating Scale, and Children's Attention and Adjustment Survey. Dietetic management was applied. The results of neuroimaging (computed tomography or magnetic resonance imaging of the brain) and electroencephalography were included when available.
Results:
The overall results showed that 15.9% had hyperphenylalaninemia, 35.4% had mild to moderate PKU, and classic PKU was diagnosed in 48.7%. Global developmental delay (54.9%) and delayed language (29.2%) were the most frequent presentations. Moderately impaired or delayed overall IQ was present in 77%. While, 83.2% had moderately impaired or delayed verbal IQ, autism was diagnosed in 50.4%. Super average and average probability of attention-deficit hyperactivity disorder was diagnosed in 88.5%. Abnormal neuroimaging (white matter abnormalities and brain atrophy) was the most important significant predictor for poor language and motor developmental outcome (P<0.05).
Conclusion:
PKU children had variable neuropsychological outcomes, mainly attention-deficit hyperactivity disorder and impaired verbal IQ, both of which were not related to the initial phenylalanine levels or to duration of dietary therapy, but were significantly related to early dietary intervention.
... This provides a larger number of cases who were referred for evaluation of various neuropsychiatric and developmental problems, such as those previously described in our previously published pilot study. 42 In the current study, we had to clarify the current status of the disease burden and the neuropsychiatric outcome of PKU in our locality. The vast majority of our cases (97.3%) presented beyond the neonatal period and only 2.7% of the cases were discovered during neonatal screening. ...
... The mean age of presentation was 43.91±39.19 months, and this was comparable to our previous study (40.44±36 months), 42 but higher than that observed ...
Background: Phenylketonuria (PKU) considered to be a rare inborn error of metabolism, but one of the commonest causes of mental retardation when untreated.
Objectives: The present study has been approached to characterize the clinical patterns of PKU, and analyze various neuropsychiatric outcomes in PKU children, at Sohag Province, Egypt.
Patients and methods: A prospective cohort study has been conducted on 113 PKU patients, diagnosed during the period from 2012 to 2017, at the Pediatric Neurology Clinic of Sohag University Hospital, Upper Egypt. One hundred and ten cases were diagnosed based on the clinical suspicion combined with laboratory confirmation by measuring their plasma phenylalanine levels, using amino acid analyzer, while, three cases were detected during neonatal screening. All patients, but three, are clinically diagnosed and late treated. Psychometric evaluations of PKU patients were done, using intelligence quotient(IQ, Stanford-Binet V),childhood autism rating scale, and Children's Attention and Adjustment Survey. Dietetic management has been applied. The results of neuroimaging (CT or MRI brain), electroencephalography(EEG) were included when available.
Results: The overall results showed that 15.9% had hyperphenylalaninemia, 35.4% had mild to moderate PKU, and classic PKU was diagnosed in 48.7%. Global developmental delay (54.9%) and delayed language (29.2 %) were the most frequent presentations. Moderately impaired or delayed overall I.Q was present in 77% . While, 83.2 % had moderately impaired or delayed verbal IQ. Autism was diagnosed in 50.4 % . Super average and average probability of attention deficit hyperactivity disorder was diagnosed in 88.5%. Abnormal neuroimaging(white matter abnormalities and brain atrophy) was the most important significant predictor for poor language and motor developmental outcome (p<0.05).
Conclusions: PKU children had variable neuropsychological outcomes , mainly ADHD in addition, impaired verbal IQ, both weren't related neither to the initial phenylalanine levels nor to duration of dietary therapy, but significantly related to early dietary intervention.
Keywords: Phenylketonuria, IQ,Autism, CARS, ADHD, Upper Egypt.
Phenylketonuria (PKU) represents a common inborn error of metabolism. PKU management is complicated and bothersome; multiple challenges may represent strains on the Quality Of Life (QOL) of both children and their parents. We aimed to assess QOL among PKU children and to identify diversified factors affecting their parents’ QOL. An exploratory cross-sectional study was conducted among a calculated random sample of 120 PKU children attending a primary health care center in Cairo. A structured interview questionnaire included the QOL assessment tool ‘PedsQL questionnaire’ while the impact of the dietary plan on the family’s daily life was inquired upon utilizing the ‘PKU-QOL questionnaire’. Our results revealed a positive history of similar cases (PKU) in the family reported by 35 cases (29.1%). QOL was very high in children under 5 years and tended to decrease afterward. Children aged five years or more had low scores in all QOL domains. Dietary management of PKU represented a financial burden on nearly two-thirds of families. Parents of PKU children face difficulties in the management of dietary protein restriction; this includes (feeling sad about dietary restriction, worrying that the child might secretly eat forbidden food, and calculating the allowed protein in their children’s diet) and they also suffer from the daily expenses of PKU diet.
Background: Primary health care nurses are often the first line of defense and safety when it comes to educating parents and managing the entire newborn screening process to ensure healthy outcomes for families. The aim of this study: was to assess the level of primary health care nurses' knowledge regarding Phenylketonuria (PKU) disorder and its screening test and evaluate the effect of educational intervention on their knowledge level Methods: Quasi experimental design was used in this study. This study was conducted in the seven maternal and child health care centers at Tanta City. One hundred nurses who work at screening and follow up clinics were included in the study. Tools of the study: questionnaire assessment sheet was used to collect data including part I; Socio-demographic data and training courses, Part II; Nurses' knowledge regarding phenylketonuria disease, Part III; Nurses' knowledge regarding phenylketonuria screening test, Part IIII; Nurses' knowledge regarding correct steps of PKU screening test procedure. Results: There was a statistically significant difference in level of nurses' knowledge pre and post intervention. Pre intervention, only 19% of studied nurses had a good knowledge score regarding PKU disease and only 5% of them had a good knowledge score regarding PKU test. While, post intervention, all the studied nurses becomes had good knowledge score regarding the disease and its test. Pre intervention, only 16 % of studied nurses know 9-13 steps of PKU screening procedure correctly. While, post intervention this percentage increased to 95%. Conclusions and recommendation: Educational intervention course improve nurses' level of knowledge regarding Phenylketonuria disease and its screening test. So, the study recommended that there was a dire need for continuous service training courses and health education programs for primary health care nurses especially those in well baby and screening clinics about PKU disease, its screening test and importance of early detection especially after the implementation of such screening program in Egypt.
